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research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research A translational approach to improve therapeutics in atopic dermatitis and beyond
New treatments for atopic dermatitis and alopecia areata have been developed using a targeted approach.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Tofacitinib in a Recalcitrant Case of Alopecia Areata
Tofacitinib effectively treated severe alopecia areata in a 14-year-old girl.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research 42736 Safety Assessments in the Multinational Phase 3 THRIVE-AA1 Trial with CTP-543 (Deuruxolitinib) in Adult Patients with Moderate to Severe Alopecia Areata
research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata
Certain IL-18 gene variations may increase the risk of alopecia areata.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research MultiKano: an automatic cell type annotation tool for single-cell multi-omics data based on Kolmogorov–Arnold network and data augmentation
MultiKano accurately identifies cell types in complex data better than existing methods.
research Human hair follicle transcriptome profiling: a minimally invasive tool to assess molecular adaptations upon low‐volume, high‐intensity interval training
Hair follicle analysis can track body changes from high-intensity interval training.
research The role of Atg5 gene in tumorigenesis under autophagy deficiency conditions
Atg5 can promote tumors when autophagy is deficient but suppresses them under normal conditions.
research Inhibidor janus kinasa como opción terapéutica en alopecia areata. Reporte de caso
Janus kinase inhibitors may effectively treat severe alopecia areata unresponsive to other treatments.
research SnapshotDx Quiz: September 2018
Tofacitinib may help regrow hair in alopecia areata patients.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research Upadacitinib for management of recalcitrant alopecia areata: A retrospective case series
Upadacitinib cleared scalp alopecia areata in three patients and also improved atopic dermatitis with minimal side effects.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Determination of 13 janus kinase inhibitors in anti-alopecia cosmetics by ultra-high performance liquid chromatography-tandem triple quadrupole composite linear ion trap mass spectrometry
A new method accurately detects illegal JAK inhibitors in hair loss cosmetics.
research androgenetic alopecia, n.
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research Rule-out test for autism using machine-learning analysis of molecular temporal dynamics in hair - a multicenter study
A machine-learning test using hair can help detect autism early in infants.
research Influence of Different Designs of High-Heeled Shoes on Kinematics, Kinetics, and Muscle EMG of Female Gait
Tofacitinib works well for treating alopecia areata, especially when combined with corticosteroids, but is less effective if the disease has lasted over 2 years.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.